About Retinoblastoma in Children

Retinoblastoma, which occurs most commonly in children under the age of 5 years old, is a malignant (cancerous) tumor that grows in the retina — the light-sensing part of the eye that sends the images we see to the brain. Children who develop retinoblastoma are often diagnosed before 2 years old. A child’s age at diagnosis often correlates with laterality (that is, whether the disease is found in one or both eyes). For example, children with retinoblastoma in both eyes often are diagnosed within the first 12 months of life.

Retinoblastoma is the most common eye cancer in children, accounting for about 3 percent of cancers in kids younger than 15 years old. Retinoblastoma in children rarely metastasizes (spreads) beyond the eyeball, but it can metastasize to the brain, spine, blood, soft tissues and bone marrow.

Our renowned oncologists, hematologists and researchers at the Nemours Center for Cancer and Blood Disorders, a Children’s Oncology Group (COG) member institution, work together with top Nemours ophthalmologists (who are pioneers in detecting ophthalmologic disorders in utero, or still in the womb) to diagnose and provide retinoblastoma treatment in children, kids have excellent outcomes.

Types of Retinoblastoma We Treat

At Nemours, we offer retinoblastoma treatment for children of all ages, from newborns to adolescents. Types of retinoblastoma we treat include:

Hereditary Retinoblastoma

Hereditary (present at birth) retinoblastoma is caused by a genetic change (called a “germline mutation”) in the Rb1 genethat’s inherited from an affected parent or may have occurred at the time of conception; and a second genetic mutation that occurs while the baby develops in the womb. Hereditary retinoblastoma may present as tumors in both eyes, multiple tumors in one eye, or a family history of retinoblastoma. Genetic testing is performed to further identify hereditary retinoblastoma.

Sporadic Retinoblastoma (Nonheritable Retinoblastoma)

Also known as “unilateral retinoblastoma” (because it occurs mainly in one eye), sporadic retinoblastoma represents 70 to 75 percent of all retinoblastoma cases. This type is caused by simultaneous genetic changes in the Rb1 gene that occur randomly (by chance) during retinal development. Only the tumor contains these genetic mutations — the rest of the body has normal Rb1 genes.

Diagnosing Retinoblastoma in Children

Signs & Symptoms of Retinoblastoma

pupil leukocoria (white or yellowish area in the dark part of the eye seen in light or, commonly, in flash photography)

poorly aligned (“wandering”) eyes

vision problems

eye pain

Testing & Evaluations

If your child possibly has retinoblastoma, we work together to appropriately diagnose and stage the disease through a variety of tests and procedures, including:

thorough eye examination, physical examination and medical history

blood tests

medical imaging (typically with MRI and/or ultrasound)

If there is concern the cancer has spread, you doctor may recommend additional tests, such as:

Your care team is here to provide your family with ongoing support and follow-up. We always include you in the entire process, because we truly believe in the healing power of families, and that you know your child best.

Innovative Pediatric Retinoblastoma Treatment at Nemours

Retinoblastoma treatment depends on a child’s age, overall health, extent of the disease and other factors. Nemours offers advanced and innovative childhood cancer treatments and approaches (called “modalities”) that aren’t available at other children’s hospitals.

We may use one or a combination of modalities that include:

chemotherapy — Tumor-killing medications are given orally, through injection or intravenously (in a vein).

brachytherapy — Radioactive material (little rods or pellets) is placed within the tumor to deliver beams of radiation to specific areas. This form of treatment minimizes the damage to surrounding healthy tissue.

radioactive plaques — A disk is implanted in the eye with a dose of radiation applied directly to the tumor site.

Additional Resources & Support for Families

Nemours Support Services

Dealing with childhood cancer is difficult for your child and family. But you don’t have to go through it alone. Nemours provides an array of support services that begin on the very first day we meet, and continues throughout your journey because at Nemours, your child and family become of our own. Our services include:

American Cancer Society: The society provides programs and services, and raises funds for research and support programs. On the site, you can find information about cancer, treatments and research, and resources for support.

Cancer.Net: Get oncologist-approved information about cancer and types of cancer from the American Society of Clinical Oncology.

National Cancer Institute: The National Cancer Institute is part of the National Institutes of Health and is the federal government's principal agency for cancer research and training. On this site, visitors can learn more about cancer and the types of cancer, and get cancer-related information.

National Institutes of Health: This site provides a vast amount of information on diseases, treatments and research, including the informative site, Medline Plus.